Gorlin-Goltz syndrome

Jawa, Deepti Singh; Sircar, Keya; Somani, Rani; Grover, Neeraj; Jaidka, Shipra; Singh, Sanjeet Kumar

doi:10.4103/0973-029x.57677

Cited by 59 publications

(37 citation statements)

References 16 publications

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“…The syndrome occurs with an equal frequency in men and women and in almost all ethnic groups except for the Caucasian race, which is most often affected by it [1,2,4–6,9]. NBCCS is sometimes diagnosed in very young patients, but in most cases it occurs in people aged between 17 and 35 years [1,15].…”

Section: Etiology and Occurrencementioning

confidence: 99%

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Gorlin-Goltz syndrome – a medical condition requiring a multidisciplinary approach

Kiwilsza

Sporniak‐Tutak

2012

Med Sci Monit

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SummaryGorlin-Goltz syndrome is a rare genetic condition showing a variable expressiveness. It is inherited in a dominant autosomal way. The strongest characteristic of the disease includes multiple basal cell carcinomas, jaw cysts, palmar and plantar pits, skeletal abnormalities and other developmental defects. Owing to the fact that the condition tends to be a multisystemic disorder, familiarity of various medical specialists with its manifestations may reduce the time necessary for providing a diagnosis. It will also enable them to apply adequate methods of treatment and secondary prevention. In this study, we present symptoms of the disease, its diagnostic methods and currently used treatments.We searched 2 scientific databases: Medline (EBSCO) and Science Direct, for the years 1996 to 2011. In our search of abstracts, key words included nevoid basal cell carcinoma syndrome and Gorlin-Goltz syndrome.We examined 287 studies from Medline and 80 from Science Direct, all published in English. Finally, we decided to use 60 papers, including clinical cases and literature reviews.Patients with Gorlin-Goltz syndrome need particular multidisciplinary medical care. Knowledge of multiple and difficult to diagnose symptoms of the syndrome among professionals of various medical specialties is crucial. The consequences of the disease pose a threat to the health and life of patients. Therefore, an early diagnosis creates an opportunity for effective prevention and treatment of the disorder. Prevention is better than cure.

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Section: Etiology and Occurrencementioning

confidence: 99%

“…Apart from the earlier mentioned symptoms of NBCCS, patients may have numerous disorders affecting various systems and organs (Table 2) [2,4,5,10,17,22,25,27,29,30,34–39]. …”

Section: Symptoms and Complicationsmentioning

confidence: 99%

Gorlin-Goltz syndrome – a medical condition requiring a multidisciplinary approach

Kiwilsza

Sporniak‐Tutak

2012

Med Sci Monit

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“…Gorlin-Goltz syndrome occurs with an equal frequency in men and women and almost all ethnic groups. [ 5 ] This syndrome is occasionally diagnosed in very young patients, but in most cases, it occurs in people aged between 17 and 35 years. [ 6 ] The condition is very difficult to diagnose in early childhood because its symptoms appear gradually during the growing phase, but good prognosis is seen in early diagnosed cases.…”

Section: Discussionmentioning

confidence: 99%

Multiple jaw cysts-unveiling the Gorlin-Goltz syndrome

et al. 2015

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Gorlin-Goltz syndrome or basal cell nevus syndrome is a comparatively rare syndrome characterized by basal cell nevi, odontogenic keratocysts, and skeletal anomalies. Diagnosis is based on the major and minor clinical and radiographic criteria. Dentist plays a major role in the diagnosis of this disease due to the oral and maxillofacial manifestations of the syndrome. In some cases, jaw cysts are diagnosed by routine radiographs advised by the dentists. Odontogenic keratocysts in such syndromic patients will be multiple and extensive and in some cases results in cortical expansion and facial disfigurement. Thorough clinical examination and investigations prompt an early confirmation of the syndrome, which is very essential to avoid morbidity associated with the syndrome. Here, we report a case of multiple odontogenic cysts in a 16-year-old patient which later was diagnosed as a case of Gorlin Goltz syndrome.

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“…[311] Katase et al . analyzed the neoplastic nature and biological potential of sporadic and nevoid basal cell carcinoma syndrome (NBCCS)-associated KCOT.…”

Section: Discussionmentioning

confidence: 99%

Gorlin-Goltz syndrome

Joshi¹,

Deshmukh²,

Golgire³

2012

Dent Res J

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Gorlin-Goltz syndrome is an uncommon autosomal dominant inherited disorder, which is characterized by multiple odontogenic Keratocysts and basal cell carcinomas, skeletal, dental, ophthalmic, and neurological abnormalities, intracranial ectopic calcifications of the falx cerebri, and facial dysmorphism. Pathogenesis of the syndrome is attributed to abnormalities in the long arm of chromosome 9 (q22.3-q31) and loss or mutations of human patched gene (PTCH1 gene). Diagnosis is based upon established major and minor clinical and radiological criteria and ideally confirmed by deoxyribo nucleic acid analysis. We report a case of a 9-year-old girl presenting with three major and one minor feature of Gorlin-Goltz syndrome. Radiologic findings of the syndrome are easily identifiable on Orthopantomogram, chest X-ray, and Computed tomography scans. These investigations prompt an early verification of the disease, which is very important to prevent recurrence and better survival rates from the coexistent diseases.

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Gorlin-Goltz syndrome

Cited by 59 publications

References 16 publications

Gorlin-Goltz syndrome – a medical condition requiring a multidisciplinary approach

Gorlin-Goltz syndrome – a medical condition requiring a multidisciplinary approach

Multiple jaw cysts-unveiling the Gorlin-Goltz syndrome

Gorlin-Goltz syndrome

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